Myology research highlights
RSS feedNew study argues for a 4-time higher dose of enzyme in infantile-onset Pompe disease
Pompe disease is a rare metabolic disease caused by abnormalities in the GAA gene, which codes for acid alpha-glucosidase, also called acid maltase. The infantile-onset of the disease causes early death in the absence of enzyme replacement therapy with alglucosidase alfa (Myozyme®), administered intravenously at the usual dose of 20 mg / kg / 14 … [Read more]
The first lessons from the neonatal screening program for SMA in New York StateÂ
SMA is the second most common neuromuscular disorder in children. There are 4 types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached. SMA is the cause of paralysis, often progressing to respiratory failure and severe orthopedic deformities. The recent arrival of two innovative treatments based on … [Read more]
Myotubular myopathy and peliosis hepatitis: a non incidental association
X-linked myotubular myopathy (MTM) is an extremely rare neuromuscular disease belonging to the very heterogeneous group of congenital myopathies. Revealed at birth, even in utero, it is extremely severe with premature mortality. It results in a major hypotonia with respiratory attack, the whole quickly putting into play the vital prognosis. The causal gene MTM1 codes … [Read more]
Single-breath count test by phone helps to identify myasthenic crises
Myasthenia gravis, a disease of the neuromuscular junction, can be accompanied by respiratory difficulties (dyspnoea, congestion, ineffective cough …) whose occurrence over a few days, associated with a rapid motor deterioration, leads to the diagnosis myasthenic crisis. This exacerbation of the disease constitutes a vital emergency, which requires hospitalization in intensive care. An easy and … [Read more]
Andersen-Tawil Syndrome type 1 (ATS1): publication of the largest series of patients in the world
The concept of canalopathy covers a large number of genetic diseases linked to dysfunctions of ion channels of various kinds. Some of these canalopathies have a muscular and / or cardiac phenotype such as Andersen-Tawil syndrome (ATS1). This rare and little-known neuromuscular disease is transmitted as an autosomal dominant inherited disease. It is linked to … [Read more]
Dermatomyositis associated with anti-MDA5 is divided into three subgroups
Identified in 2009, the anti-MDA5 autoantibodies are considered to be specific for dermatomyositis, a rare autoimmune disease which can cause skin, muscle and / or lung damage (interstitial lung disease). A large observational study conducted between 2011 and 2017 in 37 French hospitals included 83 patients with anti-MDA5 autoantibodies, compared to 190 patients with myositis … [Read more]
DM1 and metformin : new biological evidence
Myotonic dystrophy type 1 (DM1) is a genetic disease transmitted according to an autosomal dominant mode, with a multisystemic phenotypic expression. Muscles, heart, lens, central nervous system and endocrine glands are target organs. The risk of type 2 diabetes in particular is much higher in patients with DM1 than in the general population. French work … [Read more]
Case report of a 71-year-old female patient successfully treated with nusinersen
In a letter to the editor published in May 2020, a Japanese team reports their experience of treatment with nusinersen of the oldest patient treated to date. This 71-year-old female patient has SMA type 4. She has a deletion in the SMN1 gene and 4 copies of the SMN2 gene. Her first motor problems appeared … [Read more]
Genetic abnormalities in the gene LRIF1, a rare cause of FSH2?
Facio-scapulo-humeral muscular dystrophy (FSH) is characterized by a relaxation of chromatin as well as a decrease (hypomethylation) of DNA in the D4Z4 region of chromosome 4, causing the expression of the DUX4 gene which codes for the eponymous transcription factor. Two forms of FSH: type 1 FSH (in 95% of cases) linked to a decrease … [Read more]
A review of the literature highlights the positive results of surgical fixation of the scapula in FSH
A detachment of the shoulder blades of varying importance is present in many neuromuscular diseases. Linked to weakness in the muscles fixing shoulder blades, the phenomenon is the cause of disfigurement, sometimes major functional discomfort and, sometimes, painful phenomena. This is especially true in facio-scapulo-humeral myopathy (FSH) where this detachment is constant and very pronounced. … [Read more]
